ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.271+3G>A

gnomAD frequency: 0.00167  dbSNP: rs75430014
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000224276 SCV000281298 uncertain significance not provided 2015-06-04 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Invitae RCV001085163 SCV001027657 likely benign Glutaric aciduria, type 1 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000224276 SCV001942665 likely benign not provided 2019-08-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001085163 SCV001455951 likely benign Glutaric aciduria, type 1 2020-05-29 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001699071 SCV001924379 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000224276 SCV001973547 likely benign not provided no assertion criteria provided clinical testing

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